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NIH's Collins on Changing the Future of Medicine

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NIH's Collins on Changing the Future of Medicine



NIH's Collins on Changing the Future of Medicine

, Francis S. Collins, MD, PhD
 DisclosuresMarch 31, 2015



Taking Health and Disease to the Next Level

Eric J. Topol, MD: Hello. I am Eric Topol, editor-in-chief of Medscape. I am thrilled to welcome Francis Collins, director of the National Institutes of Health (NIH), for a Medscape One-on-One discussion.
Not long after the President's announcement during the State of the Union address, the White House Precision Medicine Initiative was established. Let's start with that and your impressions of where it is headed.
Francis S. Collins, MD, PhD: I am enormously pleased with the President's enthusiasm and excited that this project is beginning to take shape and move forward. Precision medicine is an area that you have written a lot about, and those of us who are interested in trying to bring our understanding of health and disease to the next level can see the potential. This proposal from the President for significant new resources in the next fiscal year is quite a moment.
Dr Topol: You have been working on this for many years. What happened to finally move it in this direction?
Dr Collins: I published a paper in Nature [1] in 2004, proposing a longitudinal large-scale cohort in the United States to try to track all of the factors involved in health and disease. It landed with a loud thud because, at that time, problems with practicality were identified: "How much is this going to cost? Do we actually have the ability to collect phenotype information on individuals in any kind of reasonable way?" A lot has happened in those 11 years. Now there is a perfect coming together of opportunities with electronic health records being a part of medical care. Genome sequencing costs have plummeted (down to a few thousand dollars for a complete genome), and now patients want to take part in initiatives of this sort.
Add to that something that you have written a lot about—the increasing availability of exciting, wearable sensors to keep track of an individual's physiology and environmental exposures—and this is starting to take shape in a very exciting way. The time is right, and the President realizes that. It's not just the President's enthusiasm that is driving this; both parties seem very excited about the potential of putting America onto an exciting path to understanding things that we have not had the power to discern before.

Knowledge From Big Data

Dr Topol: You recently had a 2-day workshop at NIH to try to work out some of the details. How do you feel that momentum is coming along to help the initiative take shape?
Dr Collins: It was a very exciting couple of days. We had 85 people in the room; it was a remarkable gathering of people with many different perspectives, including many patient advocates, people who knew a lot about technology that is going to be necessary for the initiative, privacy experts, genomics experts, epidemiologists, and those who are already running cohorts of various sizes that could potentially be brought together to create this planned American cohort study a million or more people strong. It was clear that although everyone identified that there was much work to be done and a lot of details to be sorted out, they said, "We had better get busy." The sense of the potential of this initiative, called Big Data to Knowledge (BD2K), was fairly universal, and that was very exciting to see.

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